Reference Expression Profile of Three <i>FBN1</i> Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Benarroch, Louise; Aubart, Mélodie; Gross, Marie-Sylvie; Arnaud, Pauline; Hanna, Nadine; Jondeau, Guillaume; Boileau, Catherine

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Benarroch, Louise; Aubart, Mélodie; Gross, Marie-Sylvie; Arnaud, Pauline; Hanna, Nadine; Jondeau, Guillaume; Boileau, Catherine.

Afiliação

Benarroch L; Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France. louise.benarroch@inserm.fr.
Aubart M; Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France. melodie.aubart@inserm.fr.
Gross MS; Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75015 Paris, France. melodie.aubart@inserm.fr.
Arnaud P; Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France. marie-sylvie.gross@inserm.fr.
Hanna N; Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France. pauline.arnaud@inserm.fr.
Jondeau G; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France. pauline.arnaud@inserm.fr.
Boileau C; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri 17 Huchard, 75018 Paris, France. nadine.hanna@aphp.fr.

Genes (Basel) ; 10(2)2019 02 11.

Article em En | MEDLINE | ID: mdl-30754709

Assuntos

Processamento Alternativo; Fibrilina-1/genética; Síndrome de Marfan/genética; Fenótipo; Células Cultivadas; Fibrilina-1/metabolismo; Fibroblastos/metabolismo; Humanos; Síndrome de Marfan/metabolismo; Síndrome de Marfan/patologia; Isoformas de Proteínas/genética; Isoformas de Proteínas/metabolismo; RNA Mensageiro/genética; RNA Mensageiro/metabolismo

Palavras-chave

Marfan syndrome; alternative splicing; clinical variability; fibrilline-1; isoforms

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Processamento Alternativo / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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